Publication

Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

Scheffer, I. E., Zhang, Y-H., Jansen, F. E. & Dibbens, L., May-2009, In : Brain & Development. 31, 5, p. 394-400 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

  • Ingrid E. Scheffer
  • Yue-Hua Zhang
  • Floor E. Jansen
  • Leanne Dibbens

Dravet syndrome and genetic epilepsy with febrile seizures plus (GEFS+) can both arise due 10 mutations of SCN1A. the gene encoding the alpha 1 pore-forming subunit of the sodium channel. GEFS+ refers to a familial epilepsy syndrome where at least two family members have phenotypes that fit within the GEFS+ spectrum. The GEFS+ spectrum comprises a range of mild to severe phenotypes varying from classical febrile seizures to Dravet syndrome. Dravet syndrome is a severe infantile onset epilepsy syndrome with multiple seizure types, developmental slowing and poor outcome. More than 70%,, of patients with Dravet syndrome have mutations of SCN1A these include both truncation and missense mutations. In contrast, only 10% of GEFS+ families have SCN1A mutations and these comprise missense mutations. GEFS+ has also been associated with mutations Of genes encoding the sodium channel beta I subunit. SCN1B. and the GABA(A) receptor gamma 2 subunit. GABRG2. The phenotypic heterogeneity that is characteristic of GEFS+ families is likely to be clue to modifier genes. Interpretation of the significance of a. SCN1A missense mutation requires a thorough understanding of the phenotypes in the GEFS+ spectrum whereas a de novo truncation mutation is likely to be associated with a severe phenotype. Early recognition of Dravet syndrome is important as aggressive control of seizures may improve developmental outcome. (C) 2009 Elsevier B.V. All rights reserved.

Original languageEnglish
Pages (from-to)394-400
Number of pages7
JournalBrain & Development
Volume31
Issue number5
Publication statusPublished - May-2009
Event11th Annual Meeting of the Infantile-Seizure-Society/International Symposium on Febrile Seizures and Related Conditions - , Japan
Duration: 10-Apr-200811-Apr-2008

Event

11th Annual Meeting of the Infantile-Seizure-Society/International Symposium on Febrile Seizures and Related Conditions

10/04/200811/04/2008

Japan

Event: Other

    Keywords

  • Dravet syndrome, SMEI, GEFS, Febrile seizures, SCN1A, SCN1B, GABRG2, SEVERE MYOCLONIC EPILEPSY, REDUCED SODIUM CURRENT, TONIC-CLONIC SEIZURES, ALPHA-1 SUBUNIT GENE, DE-NOVO MUTATIONS, SCN1A MUTATIONS, MISSENSE MUTATIONS, ABSENCE EPILEPSY, INFANCY SMEI, CHANNEL

ID: 4889064